Dolzhanskaya N - Search Results

1

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Velinov M, et al. Among authors: dolzhanskaya n. PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. PLoS One. 2012. PMID: 22235333 Free PMC article.

2

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT. Velinov M, et al. Among authors: dolzhanskaya n. Clin Dysmorphol. 2009 Jan;18(1):9-12. doi: 10.1097/MCD.0b013e3283157cad. Clin Dysmorphol. 2009. PMID: 19090026

3

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.

Reddy S, Dolzhanskaya N, Krogh J, Velinov M. Reddy S, et al. Among authors: dolzhanskaya n. Eur J Med Genet. 2009 Nov-Dec;52(6):443-5. doi: 10.1016/j.ejmg.2009.09.003. Epub 2009 Sep 20. Eur J Med Genet. 2009. PMID: 19772933

4

Mitochondrial T9098C sequence change in the MTATP6 gene and development of severe mitochondrial disease after in utero antiretroviral prophylaxis.

Velinov M, Dolzhanskaya N, Mendez H. Velinov M, et al. Among authors: dolzhanskaya n. Pharmacotherapy. 2009 Dec;29(12):1491. doi: 10.1592/phco.29.12.1491. Pharmacotherapy. 2009. PMID: 19947808

5

Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions.

Velinov M, Dolzhanskaya N. Velinov M, et al. Among authors: dolzhanskaya n. Eur J Med Genet. 2010 Jul-Aug;53(4):213-6. doi: 10.1016/j.ejmg.2010.05.005. Epub 2010 May 31. Eur J Med Genet. 2010. PMID: 20573555

6

Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder?

Velinov M, Dolzhanskaya N, Ramaswamy P, Barinstein L, Stuart RM, Kahn P, Feldstein N, Madrid RE. Velinov M, et al. Among authors: dolzhanskaya n. Clin Dysmorphol. 2012 Jan;21(1):8-10. doi: 10.1097/MCD.0b013e32834c59a8. Clin Dysmorphol. 2012. PMID: 21968521

7

A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M. Dolzhanskaya N, et al. J Alzheimers Dis. 2014;39(1):23-7. doi: 10.3233/JAD-131340. J Alzheimers Dis. 2014. PMID: 24121961 Free PMC article.

8

Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis.

Donnelier J, Braun ST, Dolzhanskaya N, Ahrendt E, Braun AP, Velinov M, Braun JE. Donnelier J, et al. Among authors: dolzhanskaya n. PLoS One. 2015 Apr 23;10(4):e0125205. doi: 10.1371/journal.pone.0125205. eCollection 2015. PLoS One. 2015. PMID: 25905915 Free PMC article.

9

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation.

Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N, Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, Chandra SS. Henderson MX, et al. Among authors: dolzhanskaya n. Acta Neuropathol. 2016 Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2. Epub 2015 Dec 10. Acta Neuropathol. 2016. PMID: 26659577 Free PMC article.

10

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.

de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: dolzhanskaya n. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.

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